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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Helbig, Katherine L. ; Lauerer, Robert J. ; Bahr, Jacqueline C. ; Souza, Ivana A. ; Uysal, Betül ; Gandini, Maria A. ; Huang, Sun ; Keren, Boris ; Mignot, Cyril ; Billette de Villemeur, Thierry ; Nava, Caroline ; Valence, Stéphanie ; Buratti, Julien ; Fagerberg, Christina R. ; Soerensen, Kristina P. ; Kamsteeg, Erik-Jan ; Koolen, David A. ; Gunning, Boudewijn ; Schelhaas, H. Jurgen ; Fox, Jordana ; Bakhtiari, Somayeh ; Jarrar, Randa ; Lindstrom, Kristin ; Jin, Sheng Chih ; Zeng, Xue ; Bilguvar, Kaya ; Papavasileiou, Antigone ; Xing, Qinghe ; Zhu, Changlian ; Boysen, Katja ; Vairo, Filippo ; Klee, Eric W. ; Tillema, Jan-Mendelt ; Payne, Eric T. ; Cousin, Margot A. ; Kruisselbrink, Teresa M. ; Wick, Myra J. ; Baker, Joshua ; Smith, Nicholas ; Angrist, Misha ; Ashley, Patricia ; Bidegain, Margarita ; Chambers, Eileen ; Cope, Heidi ; Cotten, C. Michael ; Curington, Theresa ; Davis, Erica E. ; Fisher, Kimberley ; French, Amanda ; Gallentine, William ; Hill, Kevin ; Kansagra, Sujay ; Katsanis, Sara ; Kurtzberg, Joanne ; Marcus, Jeffrey ; McDonald, Marie ; Mikati, Mohammed ; Miller, Stephen ; Murtha, Amy ; Perilla, Yezmin ; Pizoli, Carolyn ; Ross, Sherry ; Sadeghpour, Azita ; Smith, Edward ; Wiener, John ; Corbett, Mark A. ; Goldmann, Eva ; Kichula, Elizabeth ; Segal, Eric ; Jackson, Kelly E. ; Asamoah, Alexander ; McCarrier, Julie ; Botto, Lorenzo D. ; Tvrdik, Tatiana ; Cascino, Gregory D. ; Klingerman, Sherry ; Neumann, Catherine ; Nolan, Melinda A. ; Snell, Russell G. ; Lehnert, Klaus ; Sadleir, Lynette G. ; Kvarnung, Malin ; Guerrini, Renzo ; Friez, Michael J. ; Lyons, Michael J. ; Leonhard, Jennifer ; Kringlen, Gabriel ; El Achkar, Christelle M. ; Smith, Lacey A. ; Carss, Keren J. ; Rankin, Julia ; Zeman, Adam ; Blyth, Moira ; Kerr, Bronwyn ; Ruiz, Karla ; Urquhart, Jill ; Banka, Siddharth ; Scheffer, Ingrid E. ; Zamponi, Gerald W. ; Mefford, Heather C.

American journal of human genetics, 2018-11, Vol.103 (5), p.666-678 [Periódico revisado por pares]

United States: Elsevier Inc

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2
A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis
A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis
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A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis

Vaglio, Augusto ; Mackie, Sarah L. ; Hernández-Rodríguez, José ; Monach, Paul A. ; Castañeda, Santos ; Solans, Roser ; Morado, Inmaculada C. ; Narváez, Javier ; Pease, Colin T. ; Dasgupta, Bhaskar ; Watts, Richard ; Khalidi, Nader ; Ytterberg, Steven ; Boiardi, Luigi ; Beretta, Lorenzo ; Govoni, Marcello ; Bonatti, Francesco ; Witte, Torsten ; Schönau, Verena ; Papo, Thomas ; Haroche, Julien ; Mahr, Alfred ; Molberg, Øyvind ; Voskuyl, Alexandre ; Brouwer, Elisabeth ; Daikeler, Thomas ; Berger, Christoph T. ; Molloy, Eamonn S. ; Blockmans, Daniel ; Lie, Benedicte A. ; Mclaren, Paul ; Wijmenga, Cisca ; Allanore, Yannick ; Koeleman, Bobby P.C. ; Callejas, José Luis ; Caminal-Montero, Luis ; Corbera-Bellalta, Marc ; de Miguel, Eugenio ; López, J. Bernardino Díaz ; Gómez-Vaquero, Carmen ; Guijarro-Rojas, Mercedes ; Hidalgo-Conde, Ana ; Marí-Alfonso, Begoña ; Berriochoa, Agustín Martínez ; Zapico, Aleida Martínez ; Miranda-Filloy, José A. ; Monfort, Jordi ; Ortego-Centeno, Norberto ; Pérez-Conesa, Mercedes ; Prieto-González, Sergio ; Fernández, Raquel Ríos ; Sánchez-Martín, Julio ; Sopeña, Bernardo ; Unzurrunzaga, Ainhoa ; Gough, Andrew ; Isaacs, John D. ; McHugh, Neil ; Hordon, Lesley ; Kamath, Sanjeet ; Patel, Yusuf ; Yee, Cee-Seng ; Nandi, Pradip ; Nandagudi, Anupama ; Jarrett, Stephen ; Levy, Sarah ; Mollan, Susan ; Salih, Abdel ; Wordsworth, Oliver ; Sanders, Emma ; Gill, Anne ; Carr, Lisa ; Routledge, Christine ; Culfear, Karen ; James, Lynne ; Spimpolo, Jenny ; Kempa, Andy ; Masqood, Zahira ; Wood, Rose ; Rashid, Lubna Haroon ; Robinson, James I. ; Morgan, Mike ; Sorensen, Louise ; Taylor, John ; Carette, Simon ; Chung, Sharon ; Cuthbertson, David ; Forbess, Lindsy J. ; Gewurz-Singer, Ora ; Hoffman, Gary S. ; Maksimowicz-McKinnon, Kathleen M. ; Pagnoux, Christian ; Seo, Philip ; Specks, Ulrich ; Spiera, Robert F. ; Sreih, Antoine ; Barrett, Jennifer H. ; Merkel, Peter A. ; Morgan, Ann W. ; González-Gay, Miguel A. ; Martín, Javier

American journal of human genetics, 2017-01, Vol.100 (1), p.64-74 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Blood Pressure Loci Identified with a Gene-Centric Array
Blood Pressure Loci Identified with a Gene-Centric Array
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Blood Pressure Loci Identified with a Gene-Centric Array

Johnson, Toby ; Gaunt, Tom R. ; Newhouse, Stephen J. ; Padmanabhan, Sandosh ; Tomaszewski, Maciej ; Kumari, Meena ; Morris, Richard W. ; Tzoulaki, Ioanna ; O'Brien, Eoin T. ; Poulter, Neil R. ; Sever, Peter ; Shields, Denis C. ; Thom, Simon ; Whincup, Peter H. ; Brown, Morris J. ; Connell, John M. ; Dobson, Richard J. ; Howard, Philip J. ; Mein, Charles A. ; Onipinla, Abiodun ; Shaw-Hawkins, Sue ; Zhang, Yun ; Smith, George Davey ; Day, Ian N.M. ; Lawlor, Debbie A. ; Goodall, Alison H. ; Fowkes, F. Gerald ; Abecasis, Gonçalo R. ; Elliott, Paul ; Gateva, Vesela ; Braund, Peter S. ; Burton, Paul R. ; Nelson, Christopher P. ; Tobin, Martin D. ; van der Harst, Pim ; Neuvrith, Hani ; Salvi, Erika ; Staessen, Jan A. ; Stucchi, Andrea ; Devos, Nabila ; Jeunemaitre, Xavier ; Plouin, Pierre-François ; Tichet, Jean ; Juhanson, Peeter ; Org, Elin ; Putku, Margus ; Sõber, Siim ; Veldre, Gudrun ; Viigimaa, Margus ; Levinsson, Anna ; Rosengren, Annika ; Thelle, Dag S. ; Hastie, Claire E. ; Hedner, Thomas ; Lee, Wai K. ; Melander, Olle ; Wahlstrand, Björn ; Hardy, Rebecca ; Wong, Andrew ; Cooper, Jackie A. ; Palmen, Jutta ; Chen, Li ; Stewart, Alexandre F.R. ; Wells, George A. ; Westra, Harm-Jan ; Wolfs, Marcel G.M. ; Clarke, Robert ; Franzosi, Maria Grazia ; Goel, Anuj ; Hamsten, Anders ; Lathrop, Mark ; Peden, John F. ; Seedorf, Udo ; Watkins, Hugh ; Sambrook, Jennifer ; Stephens, Jonathan ; Casas, Juan-Pablo ; Drenos, Fotios ; Holmes, Michael V. ; Kivimaki, Mika ; Shah, Sonia ; Shah, Tina ; Talmud, Philippa J. ; Whittaker, John ; Wallace, Chris ; Delles, Christian ; Laan, Maris ; Kuh, Diana ; Humphries, Steve E. ; Nyberg, Fredrik ; Cusi, Daniele ; Roberts, Robert ; Newton-Cheh, Christopher ; Franke, Lude ; Stanton, Alice V. ; Dominiczak, Anna F. ; Hingorani, Aroon D. ; Samani, Nilesh J. ; Caulfield, Mark J. ; Munroe, Patricia B.

American journal of human genetics, 2011-12, Vol.89 (6), p.688-700 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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4
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

Zhao, Yingjie ; Diacou, Alexander ; Johnston, H. Richard ; Musfee, Fadi I. ; McDonald-McGinn, Donna M. ; McGinn, Daniel ; Crowley, T. Blaine ; Repetto, Gabriela M. ; Swillen, Ann ; Breckpot, Jeroen ; Vermeesch, Joris R. ; Kates, Wendy R. ; Digilio, M. Cristina ; Unolt, Marta ; Marino, Bruno ; Pontillo, Maria ; Armando, Marco ; Di Fabio, Fabio ; Vicari, Stefano ; van den Bree, Marianne ; Moss, Hayley ; Owen, Michael J. ; Murphy, Kieran C. ; Murphy, Clodagh M. ; Murphy, Declan ; Schoch, Kelly ; Shashi, Vandana ; Tassone, Flora ; Simon, Tony J. ; Shprintzen, Robert J. ; Campbell, Linda ; Philip, Nicole ; Heine-Suñer, Damian ; García-Miñaúr, Sixto ; Fernández, Luis ; Antonarakis, Stylianos E. ; Biondi, Massimo ; Boot, Erik ; Breetvelt, Elemi ; Busa, Tiffany ; Butcher, Nancy ; Buzzanca, Antonino ; Carmel, Miri ; Cleynen, Isabelle ; Cutler, David ; Dallapiccola, Bruno ; de la Fuente Sanches, María Angeles ; Epstein, Michael P. ; Evers, Rens ; Fernandez, Luis ; Fritsch, Rosemarie ; Algas, Fernando García ; Guo, Tingwei ; Gur, Raquel ; Hestand, Matthew S. ; Heung, Tracy ; Hooper, Stephen ; Jin, Andrea ; Kushan-Wells, Leila ; Laorden-Nieto, Alejandra Teresa ; Lattanzi, Guido ; Marshall, Christian ; McCabe, Kathryn ; Michaelovsky, Elena ; Ornstein, Claudia ; Silversides, Candice ; Tran, Oanh ; van Duin, Esther D.A. ; Vergaelen, Elfi ; Warren, Steve T. ; Weinberger, Ronnie ; Weizman, Abraham ; Zhang, Zhengdong ; Zwick, Michael ; Bearden, Carrie E. ; Vingerhoets, Claudia ; van Amelsvoort, Therese ; Eliez, Stephan ; Schneider, Maude ; Vorstman, Jacob A.S. ; Gothelf, Doron ; Zackai, Elaine ; Agopian, A.J. ; Gur, Raquel E. ; Bassett, Anne S. ; Emanuel, Beverly S. ; Goldmuntz, Elizabeth ; Mitchell, Laura E. ; Wang, Tao ; Morrow, Bernice E.

American journal of human genetics, 2020-01, Vol.106 (1), p.26-40 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Epidermolysis bullosa simplex : a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function
Epidermolysis bullosa simplex : a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function
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Epidermolysis bullosa simplex : a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function

STEPHENS, K ; ZLOTOGORSKI, A ; SMITH, L ; EHRLICH, P ; WIJSMAN, E ; LIVINGSTON, R. J ; SYBERT, V. P

American journal of human genetics, 1995-03, Vol.56 (3), p.577-585 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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